TG c.1610_1611insA ;(p.A538Cfs*2)

Variant ID: 8-133899227-C-CA

NM_003235.4(TG):c.1610_1611insA;(p.A538Cfs*2)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


The trypanocidal benzoxaborole AN7973 inhibits trypanosome mRNA processing.

Plos Pathogens
Begolo, Daniela D; Vincent, Isabel M IM; Giordani, Federica F; Pöhner, Ina I; Witty, Michael J MJ; Rowan, Timothy G TG; Bengaly, Zakaria Z; Gillingwater, Kirsten K; Freund, Yvonne Y; Wade, Rebecca C RC; Barrett, Michael P MP; Clayton, Christine C
Publication Date: 2018-09

Variant appearance in text: TG: 1610_1611insA
PubMed Link: 30252911
Variant Present in the following documents:
  • ppat.1007315.s003.xlsx, sheet 7
View BVdb publication page



Mutations in the CHD7 gene: the experience of a commercial laboratory.

Genetic Testing And Molecular Biomarkers
Bartels, Cynthia F CF; Scacheri, Cheryl C; White, Lashonda L; Scacheri, Peter C PC; Bale, Sherri S
Publication Date: 2010-12

Variant appearance in text: TG: 1610_1611insA
PubMed Link: 21158681
Variant Present in the following documents:
  • Main text
View BVdb publication page